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rs864622180
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
|
25614874 |
2014 |
|
rs104894619
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.
|
21194947 |
2011 |
|
rs104894619
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M).
|
19067730 |
2009 |
|
rs104894619
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Taken together, these findings suggest that T118M is a pathogenic mutation causing a dominantly inherited form of CMT by a partial loss of PMP22 function.
|
16437560 |
2006 |
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rs104894619
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We describe here a CMT1 family (a 63-year-old man, his brother and his niece) in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR) of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118)Met substitution, detected by direct sequencing the four coding exons of the PMP22 gene.
|
14502374 |
2003 |
|
rs104894621
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations associated with axonal CMT were less likely to be classified as deleterious, and the PMP22 S72L mutation repeatedly associated with severe CMT was classified as a polymorphism using default parameters.
|
19259128 |
2009 |
|
rs104894621
|
|
|
0.020 |
GeneticVariation |
BEFREE |
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
|
15625576 |
2004 |
|
rs104894617
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system.
|
25385046 |
2014 |
|
rs879253954
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we studied the quality control mechanisms for the PMP22 mutants L16P and G150D, which were originally identified in mice and patients with CMT.
|
25385046 |
2014 |
|
rs786205112
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we present the algorithm for genetic testing in Serbian patients with demyelinating CMT, based on their genetic specificities: in cases of no PMP22 duplication, and if -X-linked CMT (CMTX) is not contraindicated by pattern of inheritance (male-to-male transmission), one should test for c.94A>G GJB founder mutation, first.
|
23163601 |
2013 |
|
rs1482355069
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents.
|
23279344 |
2012 |
|
rs797044846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents.
|
23279344 |
2012 |
|
rs104894623
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This mutation is predicted to cause an Ala67Pro substitution in the second transmembrane domain of PMP22, consistent with the molecular cause of the CMT phenotype.
|
11920834 |
2002 |